LOOKING FROM THE INSIDE OUT:A PARENT’S PERSPECTIVE

Kathy Hunter*International Rett Syndrome Association, Clinton, Maryland

Key Words: diagnosis; parents; International Rett Syndrome Association;support

For most people, being told their child has Rett syndromeis a memorable event and a painful experience. Copingwith Rett syndrome can be an uphill struggle in unfamiliar

territory. In this new place, we don’t find many signs withdirections. We look for maps, but find few. The language is verycomplicated and hard to understand, with new words likeelectroencephalogram and gastroesophageal reflux. It is different fromanything we have ever experienced. When we first realizesomething is wrong, parents face denial, then guilt, frustration,and anger. We search for answers, beg for a cure, try everythingwe can to “fix” everything: the school system, the stares, all ofthe intrusions on our little dream family. We desperately need tofix it all. Most of all, we need to fix our children.

But Rett syndrome is not easy to fix. When it won’t fixitself, we find that we have to fix ourselves, recognizing what wecan change and what we cannot. In time, we come to realizethat we can change many things in our lives, but we cannotchange the fact that a child has Rett syndrome. We learnacceptance and soon find that while our lives may never be thesame again, the experience brings us much strength and insight.It introduces us to a most powerful love, the depth of which wenever knew existed.

The diagnosis brings us into a different world. In my lifebefore Rett syndrome, I thought braces were used to straightenteeth, not arms and legs; genes were worn with a tee shirt; PTmeant part-time and OT overtime; buttons were on yourblouse, not your belly; guilt came from something you didwrong, not because you didn’t have enough time to do moreright; status was something you earned, not feared; mobility wasusually upward; and spasticity was a good Jerry Lewis movie.Back then my daughter’s brothers were brothers, not siblings. Ihad a lot to learn.

Finding AnswersMy journey with Rett syndrome began when the day that

should have been the saddest of my life instead became one ofthe happiest. I will never forget the day I never expected tocome. Finally, after a decade of frustrating unknowns, I hadanswers about what happened to my beautiful little girl, Stacie.

Stacie was ten years old at the time, and we had spent yearspursuing the differential diagnosis spectrum without any ade-quate conclusions. She was an enigma to everyone she met.Normal apgar, early milestones on target, physically healthy,attractive and alert. Specialists were puzzled as to how thisbeautiful little girl who had started out so right, developed sowell and looked so good, could now be functioning so poorly.

Early in the search for answers, I was told it was probablyprogressive, that she would most likely lose all mobility, becomebedridden and die by the age of ten. I was also told that wewould probably never know why. One neuropsychologist sug-gested that it might even be my fault, a throw-back to anoutdated “refrigerator mother” theory of autism. Another well-meaning professional enthusiastically advised me to give up thesearch for answers and accept the unknown in an attempt tokeep some normalcy in our lives. While it made sense to keepour lives as normal as possible, giving up never seemed like theright thing to do. So we continued the pursuit, not reallyunderstanding what an emotional roller coaster it would be.

At two years of age, Stacie went through a battery ofdiagnostic tests. When the results were in, we were called to thehospital for a round-table discussion with the experts. We tookcomfort in thinking that it couldn’t be very serious, because shelooked quite normal in spite of her problems. We drove for anhour and a half through traffic to reach the hospital, talkingabout the weather, the sports scores, anything else we couldthink of instead of admitting how scared we really were. Whenwe finally arrived, we had to park in the back lot, walk to the farend of the hospital, up six floors and down to the end of a longhall. It wasn’t until I took off my coat that I realized it had beenon inside-out the whole time. My husband, Scott, was sopreoccupied that he hadn’t noticed.

This happened 25 years ago, long before anyone knewabout Rett syndrome. I remember the words of the professionalsso well. When they didn’t call it mental retardation, I felt aninstant rush of relief. But they called it developmental delay—wasn’t this the same thing? When I responded that surely theymeant “mild,” someone replied it was “moderate.” And then, itwas my heart that was inside-out. I wished for some sort of

*Correspondence to: Kathy Hunter, 9121 Piscataway Road, Clinton, MD 20735.E-mail: khunter@rettsyndrome.orgReceived 11 October 2001; Accepted 6 November 2001Published online in Wiley InterScience (www.interscience.wiley.com).DOI: 10.1002/mrdd.10019

MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIESRESEARCH REVIEWS 8: 77–81 (2002)

© 2002 Wiley-Liss, Inc.

powerful magic that would transport mefrom the room and place me back intothe safety of the car, where I could con-tinue to pretend it was not serious. I criedall the way home, cried for days. I criedfor Stacie and what she would neverachieve, for the lost dreams of the normalchild I wanted, and for the lost hope thatwe could ever be whole as a family. Itwas a deep, black hole ofdespair.

We still did not know what waswrong or why, and the search for answerssoon took us to Mary Coleman, M.D., atthe Children’s Brain Research Clinic inWashington, D.C. Commonly known as“The Give Up Doctor,” Dr. Colemansaw patients from all over the world whowere difficult, undiagnosed neurologicalcases and was well known for her workon autistic spectrum disorders. In thespring of 1983, she was invited to doGrand Rounds at Hopital Necker, En-fants Malades, Paris, France, on the sub-ject of autism. By this time, she had fol-lowed Stacie’s case for more than sevenyears.

At Grand Rounds in France, topspecialists in associated fields each give ashort comment after the major speech bythe visiting professor is finished. Theleading French pediatric neurologist, Dr.Jean Aicardi, asked Dr. Coleman if shehad any patients with Rett syndrome, adisorder that would soon be described inthe first English language paper which heco-authored, A Progressive Syndrome ofAutism, Dementia, Ataxia and Loss of Pur-poseful Hands Use in Girls: Rett’s Syn-drome: Report of 35 Cases [Hagberg et al,1983]. Dr. Coleman, who had read theEnglish translation of earlier reports byDr. Andreas Rett in the German litera-ture [Rett, 1966; 1968; 1977], answeredthat she did have two girls who met allthe clinical criteria, but both had normalammonia levels, ruling out the diagnosis.Dr. Aicardi replied that a group of Eu-ropean doctors, including Dr. BengtHagberg of Sweden and himself, had de-termined that Dr. Rett was in error byincluding high ammonia levels as one ofthe criteria; in fact only 5% of the patientswith Rett syndrome actually had ele-vated ammonia. Therefore, the diagnosisof Rett syndrome could be made purelyon clinical criteria. Dr. Coleman thenconcluded that Stacie’s baffling symp-toms, which she had so carefully ob-served over the years, indeed belonged toRett syndrome.

It was a eureka moment for Dr.Coleman and a finding that wouldchange my life forever. While Rett syn-drome may not have been a “good” di-

agnosis, it was, at least—and at last—adiagnosis. Finally, relief from the tor-menting questions. Had I made someinadvertent mistake during pregnancy?Did she fall and hit her head when I wasunaware? Is it possible to be a refrigeratormother and still love your child with allthe warmth of the sun? When the paperwas published a few months later, Dr.Coleman invited us to her office to dis-cuss it. We poured over it together lineby line, noting that even the photographsof the patients in this study were reflec-tions of Stacie: the chubby “normal”baby, the eager bright-eyed smile, fol-lowed by photos showing the wide-based gait, hand stereotypy and scoliosis.The paper could well have been a historyof our child’s life. The heaviness of un-certainty began to lift as we looked ateach other in wide-eyed amazement.And then we smiled, the kind of smilethat’s reserved for once-in-a-lifetimemoments. On that day, Stacie becamethe first patient in the USA known tohave Rett syndrome. For the first time inmore than ten years, she was no longerone of a kind. We were no longer alone.A day meant for mourning, it became thehappiest day of my life.

The years in-between had been adecade of challenges. Taking care of all ofsomeone else’s needs for a lifetime can bean overwhelming task, no matter howmuch love, strength, or good attitude wemay have. When first introduced to therole of special needs parent, I felt likeDorothy in the Wizard of Oz. I didn’tknow if I had the courage, the wisdom,or the heart to do the job. There were somany unknowns and the job descriptionwas enormous. And, like Dorothy, I felttossed into a world of confusion and up-roar, a world devoid of the safety andsecurity of our beloved hometown. Aworld that was frighteningly real at onemoment and unbelievable at the next.My friends stayed behind, and, not hav-ing been where we were, didn’t under-stand my turmoil. I wished it was a baddream.

I had spent a lot of time trying tofigure out how to get back home fromthis strange place, because I thought if Icould only be where everyone else was, itwould be okay. If I just found the magicpill or therapy I’d be able to click myheels and say “so long.” If I just found adoctor with the right answers, or spentenough time teaching skills, we wouldcross over to the road that headed backwhere we belong. I felt like we werehostages.

Some years later, I realized that inspite of the struggles, I really did learn a

lot in this new place I came to call Ret-tland. After a while, it didn’t seem likesuch a bad place after all and I stoppedtrying to escape. I made some really goodfriends, and learned some things aboutmyself I might never have discovered hadit not been for the upheaval in our lives.I found myself stronger, wiser, morethankful, a little less judgmental and a lotmore spiritual. Becoming the parent of achild with Rett syndrome changed myperspective on many things. I came tounderstand that in life, there are worsethings than Rett syndrome. In spite ofearly feelings of defeat and powerlessness,I learned that while Stacie may not talk,she will never talk back; she will walkwith difficulty, but she will not walkaway; she will take drugs to sustain life,but will never use them to destroy herlife; she will need to be fed, but she willfeed the spirits of those who love andcare for her.

The Special Parent RoleWhile Stacie’s diagnosis of Rett

syndrome was a welcomed revelation,the challenges that came with the terri-tory are at times overwhelming. Noamount of book learning had preparedme for the job of special needs parent.When I was in college many years ago, Iwrote a paper for an Exceptional Psy-chology class titled, “Counseling Parentsof Mentally Retarded Children.” I gotthe best grade in the class. I ran across itin a box of papers while cleaning thebasement some fifteen years later, afterhaving lived the role of handicapped par-ent. With sudden anger and bitterness, Itore it to shreds. What irony. How Icould I have thought myself capable ofgiving advice about this difficult problemwithout any experience? No amount ofbook knowledge could supply me withthe patience, understanding and empathyneeded to perform the role of specialparent. No words could adequately de-scribe the pain and anguish of the loss.Most parents are thrust into the specialparenting role without any advancewarning or training, and often get dis-couraged. We strive to be ordinary fam-ilies in the midst of extraordinary chal-lenges. We must provide care for ourchildren every day—lifting and carrying,putting on braces, feeding, toileting, di-apering, bathing, dressing, brushingteeth, repositioning, programming acommunication device and providingprograms, therapies and transportation—yet the child with Rett syndrome is oftennot the only child in the family whoneeds attention. There is guilt in nearlyevery decision we make, because it is

78 MRDD RESEARCH REVIEWS ● A PARENT’S PERSPECTIVE ● HUNTER

impossible to always provide what is rightfor everyone. It’s not easy to get timeaway, because too often, caregivers arenot easy to find or affordable. Parentsmust make many difficult decisions;kinds of therapy, kinds of programming,when to medicate, how much, whetherto do surgery or not, when to seek alter-native placement.

Special parents face both physicaland emotional challenges. When youhave a child with special needs, out ofsight is never out of mind. It takesstrength and energy to pursue the diag-nosis, find an appropriate treatment plan,find others who will support it, select andpay for the right equipment, entertainand do therapy in addition to the manycustodial aspects of care. Parents mustcope with lost dreams for their belovedchild, silent stares from an insensitivepublic, hours of lost sleep which can’t berecovered, and relatives and friends whodo not always provide support and un-derstanding.

Parents have many stories; they arewoven together in a tapestry of manyhues from sorrow to joy. The fortunateones grow to learn many things from theexperience, learn to live life to the fullestand appreciate things that most peoplenever even recognize. We may be shat-tered at first, but in time, the largest partof our hearts swell to enormity to accom-modate the love for these very specialchildren.

Delivering the NewsDelivering the diagnosis of Rett

syndrome is not an easy task. Cliniciansare in a difficult position to begin with;they are the messenger with News TheyDon’t Want to Hear, welcoming parentsto the Club They Never Wanted to Join.Parents may be bewildered or broken justby the news itself. But the delivery of thatnews, and the unspoken message thatcomes with it, have great power. Thewords may have to be repeated whenparents are numb, but like any tragicevent, they will be remembered forever.

By the time parents reach the phy-sician’s office, chances are that they havealready been to at least one other physi-cian. They may have had to wait sometime for an appointment. Anxiety andfear are high as they imagine differentdiagnostic scenarios. It is helpful to un-derstand that their ability to absorb thewhole picture at the time of diagnosismay be hindered by the emotional stressthey are experiencing. They may hear allof your words, but immediately translatethem to a simple truth, “my child willnever be normal.” They face a sudden

rush of lost dreams for the perfect childthey had planned. The reality is that thechild is the same child she was yesterday,but the parents’ lives change forever atthat moment in time.

Some parents want all of the infor-mation at once; others need time to di-gest it a little at a time. Words like devel-opmental delay, mental retardation, physicaldisability send up huge mental roadblocks.They may need to have the informationrepeated or explained further. In my ex-perience, the time given at diagnosis willdirectly reduce the time needed in thefuture. Helping parents talk about theacute pain of diagnosis may help themavoid chronic sorrow. It will be im-mensely helpful for them to know thatthey can call back the next day or thenext week, whatever time it takes themto gather new questions as they arise.

Listen first, always considering par-ents to be observant, perceptive, intelli-gent historians until proven otherwise.Respect parents’ ideas; they know theirchild better than anyone. Dismissing par-ents’ concerns will not take those con-cerns away. Do not try to minimize theimpact of the diagnosis. Acknowledgethat there will be challenges, but supportparents in the knowledge that you will bethere for them.

If you suspect that something iswrong before the parents realize it, bestraightforward. Tell them what tests areordered and why. Offer to answer ques-tions, and be willing to wait through thesilence when they are too numb to ask. Itmay take some time before they evenknow what questions to ask.

Give them written information,first making sure it is accurate and objec-tive. Medical text references are oftendiscouraging and difficult to interpret.Written material from a Rett syndromeorganization or local support group isusually well balanced and accurate. Par-ents should not go home empty-handed.Giving them the names of individualsand organizations to contact for assistancewill help them feel supported and hope-ful, and can be a lifeline.

Often, other parents are the bestthing that can happen to parents—theytravel the same path of joys and sorrows.Parent networking provides hope andlessens isolation as they share tangibleways to cope and manage, and offer eachother invaluable resources. Throughsharing their intimate pain, they oftenfind comfort in learning that there areplaces in the heart that would not existwithout pain—and that there are thingsthey will come to appreciate in ways theynever would have imagined.

Parents may face denial at the be-ginning. In small doses, denial is notharmful. In fact, it buys some time forthem to come to grips with the situation.Trying to accept and plan for the rest oftheir child’s life is overwhelming. Accep-tance usually comes in time. Takingthings one day at a time, as hard as it is,allows them to gain better perspective.

Some parents may be defensive,overly critical or may misconstrue ormisinterpret what is said. They may havemisdirected anger at the messenger, be-wilderment at the lack of treatments andabsence of a cure. It is a highly emotionaltime, and it is always good to have themrepeat what has been said before theyleave. This clears up any miscommuni-cation and reinforces the real message.

Be honest; while the words may bedifficult to hear at first, parents will bevery grateful for your honesty later. Besensitive; approach the family with theknowledge and insight that the diagnosiswill change their lives forever. Accentu-ate the positive: strengths in the child andthe family. Use simple, frank terminol-ogy in making the diagnosis.

Acknowledge the parents’ feelings;they will go through shock, denial, grief,anger and frustration. The cycle oftenrepeats itself at significant times in devel-opment, such as birthdays or graduations.

While it seems like a small thing, itis so very important to touch the child, torecognize and acknowledge her. Speak toher as if she understands as best as a childcan. Tell her before you move her, andrespect her fear of a new situation. Itshows parents you care and that youvalue their child as a person. This canmake a meaningful difference in the con-fidence and trust parents feel.

Don’t take away hope. The senseof loss of control in the situation is enor-mous; they can’t change the Rett syn-drome. While parents must face the re-ality of the diagnosis, they must findreasons to see that all is not lost, to feelthat they can look forward to a treat-ment, that their child’s life can be richand meaningful in spite of limitations.They can derive great comfort from theknowledge that many researchers areworking on Rett syndrome in the genu-ine hope of finding a cure. It is an excit-ing time as we find ourselves on thethreshold of new discoveries. They needto know that they can make new dreams,and they can have good lives in spite ofthe devastating diagnosis of Rett syn-drome.

Some parents may invest them-selves fully in the child’s care and treat-ment, overlooking their own needs or

79MRDD RESEARCH REVIEWS ● A PARENT’S PERSPECTIVE ● HUNTER

those of other family members. It helpsto take a positive approach, remindingthem that while it is important to exploreevery treatment option, it is also impor-tant to take care of themselves first. Agood example is the stewardess on anairline, who is delegated the responsibil-ity of safety and well-being of passengers.She instructs passengers to always put ontheir own oxygen masks in an emergencyfirst, before trying to save a child. Visualimagery helps in the example of thenourishment pitcher; when all of theglasses are filled, the pitcher is empty forthe caregiver, who will soon be incapableof filling the glasses of those around her.The best caregiver is a well-rested, wellnourished, well-rounded one.

There may be a need to vent aboutthe difficulties from time to time. Specialneeds parents should have the same rightsas “typical” parents: to be angry, to be fedup, to be un-special at times.

If you find it difficult to deliver themessage with time and thoughtful con-sideration, find someone else who can. Itis a difficult job. In addition to scientificacumen and clinical practice, you arecalled on to soften the fall and apply firstaid to damaged hearts and anxious minds.What you say and how you say it maymake a considerable difference in howthe family accepts and copes with thesituation.

Yesterday, Today, and TomorrowMy daughter’s diagnosis was met

with great relief seventeen years ago. Be-fore that day, we knew nothing abouther prognosis. We didn’t know what toexpect or how to care for her. So, findinga name for what went wrong after tenlong years was of great comfort. Findingothers who shared our journey gave us anever-increasing circle of love and support.

Today, the medical community isacutely aware of Rett syndrome, and par-ents learn very early in their child’s lifethat Rett syndrome may be a possibility.The gene test can be completed in just afew weeks. There is no joy and jubila-tion, no relief at the diagnosis. In its placeis deep, abiding sorrow.

So, we must work energetically to-ward a better tomorrow, finding the“how” of Rett syndrome. What causesthe mutation? How can we use the genefinding to create new treatments that willallow those already affected to have thebest quality of life possible? How can weprevent Rett syndrome?

The greatest importance to life isthe impact it has on other lives. Parentsthroughout the world cannot begin tothank all of the talented and dedicated

researchers who continue with enthusi-asm to put all of the pieces of the Rettsyndrome puzzle finally into place.Never doubt for a moment the signifi-cance of your work. Your help is our hope.

The International Rett SyndromeAssociation

One month after Stacie’s Rett syn-drome diagnosis, Dr. Coleman found an-other patient with Rett, and recognizingthe need, asked if I would organize asupport group for families. I agreed, andshe placed an advertisement in the Journalof Child Neurology, asking pediatric neu-rologists to refer families to me. After sixmonths, a few dozen families had beenlocated, including one family from Can-ada. Looking for a name for the organi-zation, it already made sense to make thescope international, as there was very lit-tle information or resources abroad.Thus, the International Rett SyndromeAssociation was born, at the kitchen ta-ble. There was no typewriter, no copymachine, no computer, no fax, nomoney for stamps . . . just willingness tofind a way to make things better, what-ever it took. The IRSA gave families anidentity, lessened their isolation and gavethem hope.

The first meeting took place in Dr.Coleman’s waiting room with just a fewparents in attendance. Each had beenthrough the same trials—years of misun-derstanding and long lists of unansweredquestions, never quite fitting in to any“handicapped group.” The bonding wasimmediate and lasting. We drew greatstrength from one another, and foundmuch satisfaction in finding others whowould benefit from our care.

When Dr. Rett came to JohnsHopkins University Hospital in Balti-more in January of 1985 at the invitationof Dr. Hugo Moser, we planned a con-ference for families around his visit.Forty-two families from 19 states in theUSA and Canada brought their childrento the Kennedy Institute. The confer-ence was publicized on national televi-sion and for the very first time, Rettsyndrome was in the news.

We soon realized that providingfamily support was only one part of themarch toward conquering Rett syn-drome. We needed to find ways to en-courage and support research. The firstinitiative was working with Dr. MaryColeman on a retrospective parent ques-tionnaire [Coleman et al., 1988], whichcompared clinical data and examinedpossible etiological factors.

We began collecting contributionsfor the IRSA Permanent Research Fund,

but realized that as such a new and smallorganization, it would be some time be-fore enough was collected to make thefirst grants. Maryland CongressmanSteny Hoyer then became a powerfuladvocate in Congress from his positionon the House Appropriations Commit-tee. From the first designation of $10,000in 1986, together we have been able toleverage nearly $35 million in funding forresearch on Rett syndrome at the Na-tional Institutes of Health.

By 1991, the IRSA PermanentResearch Fund had grown large enoughto begin awarding the first grants. Sincethen, the fund has allocated more than$2.25 million to researchers throughoutthe world. A very proud moment camewhen a grant from this fund to Dr.Ruthie Amir contributed to the genediscovery at Baylor College of Medicinein 1999. This discovery marked the be-ginning of a new area of scientific under-standing and progress in the march to-ward the cure.

From hope and desperation grew adetermination to understand the cause ofRett syndrome and bring about ways totreat, prevent, and cure it. The IRSA hascontinued to play an active role in re-search which is supportive, encouragingand inclusive, promoting the explorationof new ideas, supplementing peer-re-viewed ongoing projects, and includingresearchers anywhere in the world. Arigorous review process guarantees thatonly the most meritorious work and themost qualified researchers are supportedfrom the Fund.

Attendance at professional meet-ings, sponsorship of scientific symposia,recruitment of patients, networking withinvestigators and encouraging parents toconsent to autopsy have been importantgoals. Maintenance of the only nationalpatient database on Rett syndrome is in-valuable to researchers, enabling rapid ac-cess to vital information about case pro-files, vital statistics on the prevalence andlocation of cases, the number of familialcases, deaths and other pertinent data.Recent accomplishments include theIRSA MECP2 Variations Database andthe IRSA Genotype-Phenotype Database.

Parents understand the critical partthey must play in making sure that fundsare available for research as the means toour vision of an enhanced life and a bet-ter tomorrow for those with Rett syn-drome. They also understand the needfor them to participate vigorously in re-search—to join clinical research studies,enter clinical trials, and to allow autopsyat the tragic time of death.

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The International Rett SyndromeAssociation was begun by families, forfamilies. At the center of their lives, theyfind a precious child who touches thedeepest places in their hearts, longing fora life free of the burden of Rett syn-drome. Through their love, we all keepworking and striving toward that betterday—a day when they are no longer lim-ited, no longer frustrated, no longer suf-fering. The movement is driven by thepassion of parents, fueled by the energythat comes from the desire to make adifference. Just as important as the re-

search itself is the need to disseminate thisinformation back to families, providingupdates on new avenues and future di-rections for studies that provide hope andanticipation of a better life for their af-fected children. The International RettSyndrome Association can be reached at1-800-818-RETT, (301) 856-3334, andwww.rettsyndrome.org. f

REFERENCESColeman M, Brubaker J, Hunter K, et al., 1988.

Rett syndrome: a survey of North Americanpatients. Journal of Mental Deficiency Re-search 32:117–124.

Hagberg B, Aicardi J, Dias K, et al. 1983. A pro-gressive syndrome of autism, dementia, ataxiaand loss of purposeful hand use in girls: Rett’ssyndrome: a report of 35 cases. Annals ofNeurology 14:471–479.

Rett A. 1966. Uber ein cerebral-atrophisches Syn-drom bei Hyperammonamie. Vienna: Hol-linek.

Rett A. 1968. Uber ein eigenartiges hirnatrophis-ches Syndrom bei Hyperammonianmie inKindesalter. Wein Med. Wochenschr116:723–738.

Rett A. 1977. “Cerebral atrophy associated withhyperammonaemia.” Vinken PJ, Bruyn, GW,eds. Handbook of Clinical Neurology29:305–329.

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